Links from Gene
Items: 1 to 20 of 2064
1.
rs1491519252 has merged into rs767676507 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:103332914
(GRCh38)
14:103799251
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- EIF5 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
TTTTTT=0.138889/515
(TWINSUK)
TTTTTT=0.145823/562
(ALSPAC)
TTTTTTTT=0.25/10
(GENOME_DK)
- HGVS:
NC_000014.9:g.103332914_103332920del, NC_000014.9:g.103332916_103332920del, NC_000014.9:g.103332917_103332920del, NC_000014.9:g.103332918_103332920del, NC_000014.9:g.103332919_103332920del, NC_000014.9:g.103332920del, NC_000014.9:g.103332920dup, NC_000014.9:g.103332919_103332920dup, NC_000014.9:g.103332918_103332920dup, NC_000014.9:g.103332917_103332920dup, NC_000014.9:g.103332916_103332920dup, NC_000014.9:g.103332915_103332920dup, NC_000014.9:g.103332914_103332920dup, NC_000014.9:g.103332913_103332920dup, NC_000014.9:g.103332912_103332920dup, NC_000014.9:g.103332911_103332920dup, NC_000014.9:g.103332910_103332920dup, NC_000014.9:g.103332909_103332920dup, NC_000014.9:g.103332908_103332920dup, NC_000014.9:g.103332907_103332920dup, NC_000014.9:g.103332906_103332920dup, NC_000014.9:g.103332920_103332921insTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.103332920_103332921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.103332920_103332921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.103799251_103799257del, NC_000014.8:g.103799253_103799257del, NC_000014.8:g.103799254_103799257del, NC_000014.8:g.103799255_103799257del, NC_000014.8:g.103799256_103799257del, NC_000014.8:g.103799257del, NC_000014.8:g.103799257dup, NC_000014.8:g.103799256_103799257dup, NC_000014.8:g.103799255_103799257dup, NC_000014.8:g.103799254_103799257dup, NC_000014.8:g.103799253_103799257dup, NC_000014.8:g.103799252_103799257dup, NC_000014.8:g.103799251_103799257dup, NC_000014.8:g.103799250_103799257dup, NC_000014.8:g.103799249_103799257dup, NC_000014.8:g.103799248_103799257dup, NC_000014.8:g.103799247_103799257dup, NC_000014.8:g.103799246_103799257dup, NC_000014.8:g.103799245_103799257dup, NC_000014.8:g.103799244_103799257dup, NC_000014.8:g.103799243_103799257dup, NC_000014.8:g.103799257_103799258insTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.103799257_103799258insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.103799257_103799258insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_158216.1:n.1749_1755del, NR_158216.1:n.1751_1755del, NR_158216.1:n.1752_1755del, NR_158216.1:n.1753_1755del, NR_158216.1:n.1754_1755del, NR_158216.1:n.1755del, NR_158216.1:n.1755dup, NR_158216.1:n.1754_1755dup, NR_158216.1:n.1753_1755dup, NR_158216.1:n.1752_1755dup, NR_158216.1:n.1751_1755dup, NR_158216.1:n.1750_1755dup, NR_158216.1:n.1749_1755dup, NR_158216.1:n.1748_1755dup, NR_158216.1:n.1747_1755dup, NR_158216.1:n.1746_1755dup, NR_158216.1:n.1745_1755dup, NR_158216.1:n.1744_1755dup, NR_158216.1:n.1743_1755dup, NR_158216.1:n.1742_1755dup, NR_158216.1:n.1741_1755dup, NR_158216.1:n.1755_1756insAAAAAAAAAAAAAAAAAAAA, NR_158216.1:n.1755_1756insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_158216.1:n.1755_1756insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
2.
rs1491410275 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 14:103336644
(GRCh38)
14:103802981
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103336642:TGT:T
- Gene:
- EIF5 (Varview), SNORA28 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000005/1
(GnomAD_exomes)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491118495 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTAACGATCCAAACTC
[Show Flanks]
- Chromosome:
- 14:103336643
(GRCh38)
14:103802981
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103336643:GTAACGATCCAAACTC:GTAACGATCCAAACTCGTAACGATCCAAACTC
- Gene:
- EIF5 (Varview), SNORA28 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTAACGATCCAAACTCGTAACGATCCAAACTC=0./0
(
ALFA)
GTAACGATCCAAACTC=0.000004/1
(TOPMED)
GTAACGATCCAAACTC=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490879737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:103334891
(GRCh38)
14:103801228
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103334890:C:A
- Gene:
- EIF5 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
5.
rs1490279171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:103334016
(GRCh38)
14:103800353
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103334015:G:A,NC_000014.9:103334015:G:C
- Gene:
- EIF5 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00004/1
(TOMMO)
- HGVS:
6.
rs1490024055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:103334430
(GRCh38)
14:103800767
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103334429:C:T
- Gene:
- EIF5 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
7.
rs1489861926 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:103333938
(GRCh38)
14:103800275
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103333937:C:A
- Gene:
- EIF5 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00033/5
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000043/6
(GnomAD)
A=0.001116/5
(Estonian)
- HGVS:
8.
rs1488939756 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 14:103336717
(GRCh38)
14:103803054
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103336716:C:A,NC_000014.9:103336716:C:G
- Gene:
- EIF5 (Varview), SNORA28 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.103336717C>A, NC_000014.9:g.103336717C>G, NC_000014.8:g.103803054C>A, NC_000014.8:g.103803054C>G, NM_183004.5:c.195C>A, NM_183004.5:c.195C>G, NM_183004.4:c.195C>A, NM_183004.4:c.195C>G, NM_001969.5:c.195C>A, NM_001969.5:c.195C>G, NM_001969.4:c.195C>A, NM_001969.4:c.195C>G
9.
rs1487883433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:103334455
(GRCh38)
14:103800792
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103334454:T:G
- Gene:
- EIF5 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1487608395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:103336552
(GRCh38)
14:103802889
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103336551:G:C
- Gene:
- EIF5 (Varview), SNORA28 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
12.
rs1487429623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:103336277
(GRCh38)
14:103802614
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103336276:G:C
- Gene:
- EIF5 (Varview), SNORA28 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000106/2
(TOMMO)
- HGVS:
14.
rs1487203837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:103332657
(GRCh38)
14:103798994
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103332656:T:C
- Gene:
- EIF5 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
15.
rs1486985181 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTAC>-
[Show Flanks]
- Chromosome:
- 14:103336217
(GRCh38)
14:103802554
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103336212:TTACCTTAC:TTAC
- Gene:
- EIF5 (Varview), SNORA28 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTAC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1486942862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:103331431
(GRCh38)
14:103797768
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103331430:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1486879573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:103332235
(GRCh38)
14:103798572
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103332234:C:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
18.
rs1486712070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:103333832
(GRCh38)
14:103800169
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103333831:C:A
- Gene:
- EIF5 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1485459738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:103335482
(GRCh38)
14:103801819
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103335481:C:A
- Gene:
- EIF5 (Varview), LOC105370687 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1485308432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:103331194
(GRCh38)
14:103797531
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103331193:C:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: